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Haddad syndrome

1 OMIM reference -
3 associated genes
34 connected diseases
19 signs/symptoms

Disease	Type of connection
Ondine syndrome
Hirschsprung disease
Bilateral renal agenesis
Bilateral renal dysplasia
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Neuroblastoma
Papillary or follicular thyroid carcinoma
Unilateral renal dysplasia
Juvenile myelomonocytic leukemia
Autosomal agammaglobulinemia
Noonan syndrome
Autosomal dominant hyper-IgE syndrome
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Autosomal dominant nonsyndromic intellectual deficit
Fuchs endothelial corneal dystrophy
Pallister-Hall syndrome
Pitt-Hopkins syndrome
Primary sclerosing cholangitis
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Precursor B-cell acute lymphoblastic leukemia
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
5q14.3 microdeletion syndrome
Hereditary gingival fibromatosis
SHORT syndrome
20p12.3 microdeletion syndrome
Brachydactyly type A2
Distal 22q11.2 microdeletion syndrome
LEOPARD syndrome
Metachondromatosis

Synonym(s): - Congenital central alveolar hypoventilation - Hirschsprung disease - Ondine-Hirschsprung disease - Ondine-Hirschsprung syndrome

Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (ICD10): - Diseases of the nervous system -

Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		External references: 1 OMIM reference - No MeSH references

Gene symbol	UniProt reference	OMIM reference
ASCL1	P50553	100790
PHOX2B	Q99453	603851
RET	P07949	164761

Very frequent

- Apnea / sleep apnea
- Autosomal dominant inheritance
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Dysautonomia / autonomous nervous sytem anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Respiratory rhythm disorder
- Short stature / dwarfism / nanism
- Strabismus / squint

Frequent

- Death in infancy
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional

- Fetal immobility / abnormal fetal movements
- Neuroblastoma
- Oligoamnios
- Polyhydramnios
- Sensorineural deafness / hearing loss