PELGER-HUET ANOMALY

General Information (adopted from Orphanet):

Synonyms, Signs: PHA
Number of Symptoms 44
OrphanetNr:
OMIM Id: 169400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005280) Depressed nasal bridge 1/1 [HPO:sdoelken] 16007606 IBIS 381 / 7739
2
(HPO:0000164) Abnormality of the teeth 1/1 [HPO:sdoelken] 16007606 IBIS 291 / 7739
3
(HPO:0000256) Macrocephaly 2/11 [HPO:sdoelken] 14684694 IBIS 298 / 7739
4
(HPO:0002007) Frontal bossing 2/2 [HPO:sdoelken] 366 / 7739
5
(HPO:0011220) Prominent forehead 137 / 7739
6
(HPO:0004482) Relative macrocephaly 44 / 7739
7
(HPO:0000212) Gingival overgrowth 1/1 [HPO:sdoelken] 16007606 IBIS 43 / 7739
8
(HPO:0009099) Median cleft palate 1/1 [HPO:sdoelken] 16007606 IBIS 3 / 7739
9
(HPO:0000316) Hypertelorism 1/1 [HPO:sdoelken] 16007606 IBIS 644 / 7739
10
(HPO:0000486) Strabismus 1/1 [HPO:sdoelken] 16007606 IBIS 576 / 7739
11
(HPO:0000403) Recurrent otitis media 1/1 [HPO:sdoelken] 16007606 IBIS 61 / 7739
12
(HPO:0002395) Lower limb hyperreflexia 1/1 [HPO:sdoelken] 16007606 IBIS 26 / 7739
13
(HPO:0001263) Global developmental delay 853 / 7739
14
(HPO:0006895) Lower limb hypertonia 1/1 [HPO:sdoelken] 16007606 IBIS 4 / 7739
15
(HPO:0001249) Intellectual disability 3/11 [HPO:sdoelken] 14684694 IBIS 1089 / 7739
16
(HPO:0001250) Seizures 1245 / 7739
17
(HPO:0002069) Generalized tonic-clonic seizures 1/1 [HPO:sdoelken] 16007606 IBIS 96 / 7739
18
(HPO:0010049) Short metacarpal 99 / 7739
19
(HPO:0001161) Hand polydactyly 71 / 7739
20
(HPO:0010044) Short 4th metacarpal 1/11 [HPO:sdoelken] 14 / 7739
21
(HPO:0010047) Short 5th metacarpal 1/11 [HPO:sdoelken] 8 / 7739
22
(HPO:0009824) Upper limb undergrowth 1/11 [HPO:sdoelken] 8 / 7739
23
(HPO:0001829) Foot polydactyly 41 / 7739
24
(HPO:0010041) Short 3rd metacarpal 1/11 [HPO:sdoelken] 5 / 7739
25
(HPO:0005720) Shortening of all metacarpals 12 / 7739
26
(HPO:0009027) Foot dorsiflexor weakness 1/1 [HPO:sdoelken] 16007606 IBIS 45 / 7739
27
(HPO:0001761) Pes cavus 1/1 [HPO:sdoelken] 16007606 IBIS 225 / 7739
28
(HPO:0010442) Polydactyly 69 / 7739
29
(HPO:0002808) Kyphosis 1/11 [HPO:sdoelken] 289 / 7739
30
(HPO:0001537) Umbilical hernia 1/1 [HPO:sdoelken] 16007606 IBIS 206 / 7739
31
(HPO:0001508) Failure to thrive 1/1 [HPO:sdoelken] 16007606 IBIS 454 / 7739
32
(HPO:0003502) Mild short stature 2/11 [HPO:sdoelken] 14684694 IBIS 19 / 7739
33
(HPO:0000964) Eczema 1/11 [HPO:sdoelken] 81 / 7739
34
(HPO:0001629) Ventricular septal defect 1/11 [HPO:sdoelken] 12118250 IBIS 316 / 7739
35
(HPO:0011447) Hyposegmentation of neutrophil nuclei 3 / 7739
36
(HPO:0001873) Thrombocytopenia 1/11 [HPO:sdoelken] 224 / 7739
37
(HPO:0001902) Giant platelets 1/11 [HPO:sdoelken] 10457411 IBIS 11 / 7739
38
(HPO:0001875) Neutropenia 1/11 [HPO:sdoelken] 83 / 7739
39
(HPO:0002916) Abnormality of chromosome segregation hallmark [HPO:sdoelken] 5 / 7739
40
(HPO:0001355) Megalencephaly 39 / 7739
41
(OMIM) Ovoid granulocyte nuclei (homozygote) 1 / 7739
42
(OMIM) Hypolobulated (bilobed or rod-like) granulocyte nuclei (heterozygote) 1 / 7739
43
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
44
(OMIM) Coarse granulocyte chromatin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Pelger-Huet anomaly is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes. (Hoffmann et al., 2002). Heterozygotes show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as ...
Molecular genetics OMIM To identify the genetic cause of PHA, Hoffmann et al. (2002) studied 11 families from Gelenau with 18 unaffected and 29 affected members, including a presumed homozygous individual. In contrast to the neutrophils of healthy subjects, all neutrophils ...
Population genetics OMIM In Spokane, Washington, Ludden and Harvey (1962) found 4 cases among 43,000 persons. Affected persons were of German or Dutch descent. In Cleveland, Skendzel and Hoffman (1962) found a frequency of 1 in 4,785 routine smears. All figures ...