Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

General Information (adopted from Orphanet):

Synonyms, Signs: FLEISHER SYNDROME
GROWTH HORMONE DEFICIENCY WITH HYPOGAMMAGLOBULINEMIA
AGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED
IGHD III
HYPOGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED
IGHD3
Number of Symptoms 29
OrphanetNr: 632
OMIM Id: 307200
ICD-10: D80.0
E23.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Isolated growth hormone deficiency type III
 -Rare endocrine disease
 -Rare genetic disease
Syndromic agammaglobulinemia
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0000031) Epididymitis 4 / 7739
2
 (HPO:0000024) Prostatitis 4 / 7739
3
 (HPO:0000010) Recurrent urinary tract infections 56 / 7739
4
 (HPO:0000246) Sinusitis 73 / 7739
5
 (HPO:0000509) Conjunctivitis 47 / 7739
6
 (HPO:0000365) Hearing impairment 539 / 7739
7
 (HPO:0000389) Chronic otitis media 64 / 7739
8
 (HPO:0001287) Meningitis 46 / 7739
9
 (HPO:0002383) Encephalitis 41 / 7739
10
 (HPO:0000824) Growth hormone deficiency 56 / 7739
11
 (HPO:0003095) Septic arthritis 2 / 7739
12
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
13
 (HPO:0002014) Diarrhea 225 / 7739
14
 (HPO:0001412) Enteroviral hepatitis 2 / 7739
15
 (HPO:0004322) Short stature 1232 / 7739
16
 (HPO:0000999) Pyoderma 7 / 7739
17
 (HPO:0003139) Panhypogammaglobulinemia 6 / 7739
18
 (HPO:0002090) Pneumonia 59 / 7739
19
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
20
 (HPO:0003729) Enteroviral dermatomyositis syndrome 2 / 7739
21
 (HPO:0002743) Recurrent enteroviral infections 2 / 7739
22
 (OMIM) Normal number of T cells 8 / 7739
23
 (OMIM) Absent antibody production 1 / 7739
24
 (OMIM) Absent B lymphocytes in all organs 2 / 7739
25
 (OMIM) Delayed onset of puberty 1 / 7739
26
 (OMIM) Deficient growth hormone response to insulin, arginine, or levodopa 1 / 7739
27
 (OMIM) Present but small tonsils 1 / 7739
28
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
29
 (OMIM) Severe enteroviral infections 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Fleisher et al. (1980) described a kindred in which 2 brothers and 2 sons of their oldest sister had hypogammaglobulinemia deficiency. Recurrent sinopulmonary infections were a prominent feature in 2 patients. Short stature, retarded bone age, and delayed ...
Molecular genetics OMIM Duriez et al. (1994) presented evidence suggesting that the syndrome combining X-linked agammaglobulinemia and isolated growth hormone deficiency is caused by mutation in the BTK gene. The BTK gene was analyzed in a sporadic case by RT-PCR analysis ...