MCID: CTN032
MIFTS: 19

Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia

Categories: Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia

MalaCards integrated aliases for Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia:

Name: Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia 56
Mastocytosis-Short Stature-Hearing Loss Syndrome 58
Mastocytosis-Short Stature-Deafness Syndrome 58
Hennekam-Beemer Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
hennekam-beemer syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: late childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cutaneous mastocytosis, conductive hearing loss and microtia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia

MalaCards based summary : Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia, also known as mastocytosis-short stature-hearing loss syndrome, is related to mastocytosis cutaneous with short stature conductive hearing loss and microtia. Affiliated tissues include skin, and related phenotypes are muscular hypotonia and microtia

More information from OMIM: 248910

Related Diseases for Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia

Diseases related to Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 mastocytosis cutaneous with short stature conductive hearing loss and microtia 12.2

Symptoms & Phenotypes for Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia

Human phenotypes related to Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia:

58 31 (showing 60, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
7 thick lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000179
8 pruritus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000989
9 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
10 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
11 macule 58 31 hallmark (90%) Very frequent (99-80%) HP:0012733
12 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
13 urticaria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001025
14 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
15 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
16 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
17 irregular hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007400
18 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
19 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
20 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
21 areflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001284
22 ventriculomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002119
23 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
24 generalized hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007440
25 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
26 triangular face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000325
27 delayed cranial suture closure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000270
28 mastocytosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100495
29 seizure 31 hallmark (90%) HP:0001250
30 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
31 prominent supraorbital ridges 58 31 occasional (7.5%) Occasional (29-5%) HP:0000336
32 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
33 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
34 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
35 fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012378
36 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
37 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
38 telangiectasia of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0100585
39 skin vesicle 58 31 occasional (7.5%) Occasional (29-5%) HP:0200037
40 thickened skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0001072
41 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
42 severe global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0011344
43 lower limb asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0100559
44 wide nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000445
45 long nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003189
46 pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002090
47 hypotension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002615
48 immunologic hypersensitivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0100326
49 lichenification 58 31 occasional (7.5%) Occasional (29-5%) HP:0100725
50 abnormality of skin pigmentation 58 31 Very frequent (99-80%) HP:0001000
51 hearing impairment 58 Very frequent (99-80%)
52 seizures 58 Very frequent (99-80%)
53 abnormality of metabolism/homeostasis 31 HP:0001939
54 feeding difficulties 31 HP:0011968
55 abnormality of the skeletal system 58 Occasional (29-5%)
56 underdeveloped nasal alae 31 HP:0000430
57 generalized hypotonia 31 HP:0001290
58 clinodactyly 31 HP:0030084
59 cutaneous mastocytosis 31 HP:0200151
60 dermatographic urticaria 31 HP:0011971

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Head And Neck Ears:
microtia
hearing loss, conductive or mixed

Head And Neck Face:
micrognathia

Muscle Soft Tissue:
hypotonia

Head And Neck Mouth:
high-arched palate

Abdomen Gastrointestinal:
feeding problems

Skin Nails Hair Skin Histology:
mast cell infiltration

Head And Neck Nose:
wide nasal bridge
hypoplastic nares

Head And Neck Head:
microcephaly

Skin Nails Hair Skin:
cutaneous mastocytosis
dermatographism (dermatographic urticaria)

Neurologic Central Nervous System:
hypotonia
mental retardation

Head And Neck Eyes:
upslanting palpebral fissures

Skeletal Hands:
clinodactyly of fifth fingers

Clinical features from OMIM:

248910

Drugs & Therapeutics for Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia

Search Clinical Trials , NIH Clinical Center for Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia

Genetic Tests for Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia

Anatomical Context for Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia

MalaCards organs/tissues related to Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia:

40
Skin

Publications for Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia

Articles related to Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia:

(showing 3, show less)
# Title Authors PMID Year
1
Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia. 56
19764024 2009
2
Skin mastocytosis, hearing loss and mental retardation. 56
1345517 1992
3
Skin mastocytosis with short stature, conductive hearing loss and microtia: a new syndrome. 56
2302825 1990

Variations for Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia

Expression for Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia

Search GEO for disease gene expression data for Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia.

Pathways for Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia

GO Terms for Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia

Sources for Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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