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2q37 microdeletion syndrome
1 OMIM reference -
1 associated gene
87 connected diseases
52 signs/symptoms
Disease Type of connection
Immunodeficiency by defective expression of HLA class 2
Giant cell glioblastoma
Gliosarcoma
Acute promyelocytic leukemia
Miller-Dieker syndrome
Precursor B-cell acute lymphoblastic leukemia
17p13.3 microduplication syndrome
5q14.3 microdeletion syndrome
Distal 17p13.3 microdeletion syndrome
Follicular lymphoma
Intravascular large B-cell lymphoma
Primary mediastinal large B-cell lymphoma
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Estrogen resistance syndrome
Microphthalmia, Lenz type
Oculofaciocardiodental syndrome
Acute basophilic leukemia
Beta-thalassemia - X-linked thrombocytopenia
Cleidocranial dysplasia
Congenital erythropoietic porphyria
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Thrombocytopenia with congenital dyserythropoietic anemia
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Distal 22q11.2 microdeletion syndrome
Peters anomaly
Familial atrial fibrillation
Familial partial lipodystrophy associated with PPARG mutations
Myelodysplastic syndromes
Autosomal dominant limb-girdle muscular dystrophy type 1D
Pancytopenia due to IKZF1 mutations
Aneurysm - osteoarthritis syndrome
Familial isolated dilated cardiomyopathy
Familial thoracic aortic aneurysm and aortic dissection
Alpha-thalassemia - X-linked intellectual deficit syndrome
Alpha-thalassemia - myelodysplastic syndrome
Autosomal dominant nonsyndromic intellectual deficit
Carpenter-Waziri syndrome
Chronic mucocutaneous candidiasis
Chudley-Lowry-Hoar syndrome
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Holmes-Gang syndrome
Hypohidrotic ectodermal dysplasia with immunodeficiency
Hypoparathyroidism - deafness - renal disease
Juberg-Marsidi syndrome
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Mosaic variegated aneuploidy syndrome
Mowat-Wilson syndrome due to a point mutation
Mowat-Wilson syndrome due to monosomy 2q22
Neurofibromatosis type 3
Pilomatrixoma
Roberts syndrome
Smith-Fineman-Myers syndrome
Spinal muscular atrophy with respiratory distress
Spinocerebellar ataxia type 1
Susceptibility to viral and mycobacterial infections
Young adult-onset Parkinsonism
Acute necrotizing encephalopathy of childhood
Familial acute necrotizing encephalopathy
Inflammatory myofibroblastic tumor
Brugada syndrome
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Hyperinsulinism due to HNF4A deficiency
Intermediate nemaline myopathy
MODY syndrome
Multiple endocrine neoplasia type 1
Severe congenital nemaline myopathy
Spinocerebellar ataxia type 18
Timothy syndrome
Typical nemaline myopathy
Common variable immunodeficiency
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
16q24.3 microdeletion syndrome
KBG syndrome
Synonym(s):
- Albright hereditary osteodystrophy 3
- Albright hereditary osteodystrophy-like syndrome
- Brachydactyly-intellectual deficit
- Del(2)(q37)
- Deletion 2q37
- Deletion 2q37-qter
- Monosomy 2q37-qter
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
1 MeSH reference: C538317
Gene symbol UniProt reference OMIM reference
HDAC4 P56524605314
Very frequent
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mid-facial hypoplasia / short / small midface
- Round face

Frequent
- Abnormally placed nipples
- Absent / decreased / thin eyebrows
- Anteverted nares / nostrils
- Clinodactyly of fifth finger
- Congenital cardiac anomaly / malformation / cardiopathy
- Deepset eyes / enophthalmos
- Depressed nasal bridge
- Downturned mouth
- Eczema
- Frontal bossing / prominent forehead
- Generalized obesity
- High arched eyebrows
- High vaulted / narrow palate
- Hyperextensible joints / articular hyperlaxity
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Metacarpal anomalies / Archibald's sign
- Microcephaly
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Simian crease / transverse / unique palmar crease
- Small foot
- Small hand / acromicria
- Supernumerary nipples / polythelia
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Thick columella
- Thin / hypoplastic ala nasi
- Thin / retracted lips
- Umbilical hernia
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Autism / autistic disoders
- Conductive deafness / hearing loss
- Diaphragmatic hernia / defect / agenesis
- Gastric / pyloric stenosis
- Hyperactivity / attention deficit
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Laryngomalacia
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Multicystic kidney / renal dysplasia
- Nephroblastoma / Wilms tumor
- Obsessive-compulsive disorder
- Short neck
- Sleep and vigilance disorders
- Tics / stereotypias
- Tracheomalacia / tracheobronchomalacia