Delayed speech and language development, and Anorexia

Medium match CHROMOSOME 3q29 DELETION SYNDROME

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

CHROMOSOME 3q29 DELETION SYNDROME Is also known as microdeletion 3q29 syndrome;3q subtelomere deletion syndrome; 3qter deletion; del(3)(q29); monosomy 3q29; monosomy 3qter

• Autosomal dominant inheritance
• Intellectual disability
• Global developmental delay
• Pica
• Microcephaly

SOURCES: OMIM MONDO ORPHANET UMLS SCTID MESH GARD DOID

Medium match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD

type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD Is also known as cbld defect; cobalamin d defect; combined defect in adenosylcobalamin and methylcobalamin synthesis, type cbld; methylmalonic aciduria with homocystinuria, type cbld

• Intellectual disability
• Seizures
• Global developmental delay
• Failure to thrive
• Gait disturbance

SOURCES: SCTID UMLS ORPHANET

Medium match NEPHROGENIC DIABETES INSIPIDUS

Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.

• Seizures
• Global developmental delay
• Short stature
• Growth delay
• Failure to thrive

SOURCES: UMLS ICD10 ORPHANET

Medium match CYCLIC VOMITING SYNDROME; CVS

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Pica

SOURCES: MONDO ICD10 GARD OMIM UMLS SCTID

Medium match HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

Holocarboxylase synthetase deficiency, a biotin-responsive multiple carboxylase deficiency (MCD), is characterized by metabolic acidosis, lethargy, hypotonia, convulsions, and dermatitis. Most patients present in the newborn or early infantile period, but some become symptomatic in the later infantile period (summary by Suzuki et al., 2005).Also see biotinidase deficiency (OMIM ), another form of MCD with a later onset.Care must be taken to differentiate the inherited multiple carboxylase deficiencies from acquired biotin deficiencies, such as those that develop after excessive dietary intake of avidin, an egg-white glycoprotein that binds specifically and essentially irreversibly to biotin (Sweetman et al., 1981) or prolonged parenteral alimentation without supplemental biotin (Mock et al., 1981).

HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Is also known as hlcs deficiency, multiple carboxylase deficiency, neonatal form, multiple carboxylase deficiency, early onset;early-onset multiple carboxylase deficiency; neonatal multiple carboxylase deficiency

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Generalized hypotonia
• Pica

SOURCES: NCIT SCTID OMIM ORPHANET GARD ICD10 DOID MONDO MESH

Medium match ARGININEMIA

Arginase deficiency is an autosomal recessive inborn error of metabolism caused by a defect in the final step in the urea cycle, the hydrolysis of arginine to urea and ornithine.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (OMIM ), carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency.

ARGININEMIA Is also known as arginase deficiency, hyperargininemia, arg1 deficiency;arginase deficiency; hyperargininemia

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: NCIT GARD DOID ICD10 ORPHANET SCTID OMIM UMLS MONDO MESH

Medium match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as partial deficiency of methylmalonyl-coa mutase; vitamin b12-unresponsive methylmalonic aciduria type mut-

• Intellectual disability
• Seizures
• Global developmental delay
• Failure to thrive
• Muscular hypotonia

SOURCES: ORPHANET

Medium match PORPHYRIA, ACUTE INTERMITTENT; AIP

Porphyrias are inherited defects in the biosynthesis of heme. Acute intermittent porphyria, the most common form of porphyria, is an autosomal dominant disorder characterized by recurrent attacks of abdominal pain, gastrointestinal dysfunction, and neurologic disturbances. In the classic form of AIP, both the ubiquitous 'nonerythroid' housekeeping HMBS isoform and the 'erythroid' HMBS isoform are deficient. However, about 5% of families have the 'nonerythroid variant' of AIP, with a defect only in the ubiquitous nonerythroid HMBS isoform and normal levels of the erythroid HMBS isoform. Clinical characteristics in the 2 forms are identical; diagnostic methods based on the level of enzyme in erythrocytes is ineffective (Puy et al., 1998; Petrides, 1998; Whatley et al., 2000).There are several other forms of porphyria: see porphyria cutanea tarda (OMIM ), variegata porphyria (OMIM ), coproporphyria (OMIM ), acute hepatic porphyria (OMIM ), and congenital erythropoietic porphyria (OMIM ).

PORPHYRIA, ACUTE INTERMITTENT; AIP Is also known as porphyria, swedish type, porphobilinogen deaminase deficiency, pbgd deficiency, uroporphyrinogen synthase deficiency, ups deficiency;

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Pica

SOURCES: MONDO OMIM DOID GARD MESH SCTID ORPHANET NCIT

Medium match FOLATE MALABSORPTION, HEREDITARY

Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate deficiency that appear within a few months after birth. Infants exhibit low blood and cerebrospinal fluid folate levels with megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits. Treatment with folate supplementation results in resolution of the signs and symptoms. The disorder is caused by impaired intestinal folate absorption and impaired transport of folate into the central nervous system (summary by Qiu et al., 2006).

FOLATE MALABSORPTION, HEREDITARY Is also known as ;congenital folate malabsorption

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: MESH MONDO ORPHANET OMIM GARD SCTID

Medium match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA

Thiamine-responsive megaloblastic anemia syndrome comprises megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke (summary by Bergmann et al., 2009). Genetic Heterogeneity of Disorders Due to Thiamine Metabolism DysfunctionSee also episodic encephalopathies due to defects in thiamine metabolism: biotin-responsive basal ganglia disease (THMD2 ), caused by mutation in the SLC19A3 gene (OMIM ) on chromosome 2q36; Amish lethal microcephaly (THMD3 ) and bilateral striatal necrosis and progressive polyneuropathy (THMD4 ), both caused by mutation in the SLC25A19 gene (OMIM ) on chromosome 17q25; and THMD5 (OMIM ), caused by mutation in the TPK1 gene (OMIM ) on chromosome 7q35.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA Is also known as thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type);thmd1, megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness, rogers syndrome, thiamine-responsive anemia syndrome, thiamine-responsive myelodysplasia;rogers syndrome; trma; thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Short stature
• Pica

SOURCES: OMIM DOID ICD10 ORPHANET UMLS MONDO SCTID GARD MESH