MCID: PKL002
MIFTS: 29

Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

Categories: Genetic diseases, Rare diseases, Muscle diseases, Skin diseases, Neuronal diseases, Respiratory diseases

Aliases & Classifications for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

MalaCards integrated aliases for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

Name: Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 53 49 71 36 28 69
Poiktmp 53 23 49 24 71
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 23 49 24
Hereditary Sclerosing Poikiloderma with Tendon and Pulmonary Involvement 49 24 71
Hereditary Fibrosing Poikiloderma-Tendon Contractures-Myopathy-Pulmonary Fibrosis Syndrome 49 55
Poiktmp Syndrome 49 55
Poikiloderma, Hereditary Sclerosing, with Tendon and Pulmonary Involvement 53
Hfp 24

Characteristics:

Orphanet epidemiological data:

55
hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: adult;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
patients require achilles tendon lengthening in first or second decade of life


HPO:

31
poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance To our knowledge, the penetrance of poiktmp is 100% with occurrence of skin features in early childhood...

Classifications:



Summaries for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

UniProtKB/Swiss-Prot : 71 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis: An autosomal dominant form of hereditary poikiloderma, a genodermatosis characterized by mottled pigmentation, telangiectasia, and epidermal atrophy. POIKTMP features include tendon contracture, myopathy, and progressive pulmonary fibrosis. It manifests from early childhood with telangiectasia and pigmentary anomalies especially on the face and sun-exposed areas, tendon contractures that particularly involve the ankles and feet causing gait disturbance, and development of pulmonary fibrosis during the second decade of life resulting in progressive dyspnea and restrictive impairment of lung function.

MalaCards based summary : Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis, also known as poiktmp, is related to fibrosis of extraocular muscles, congenital, 1 and pulmonary fibrosis, and has symptoms including scoliosis, cataract and hepatomegaly. An important gene associated with Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis is FAM111B (Family With Sequence Similarity 111 Member B). Affiliated tissues include lung, skin and pancreas.

OMIM : 53 Poikiloderma, characterized by mottled pigmentation, telangiectasia, and epidermal atrophy, can be accompanied by tendon contractures, myopathy, and progressive pulmonary fibrosis. Clinical manifestations include poikiloderma from early childhood with telangiectasia and pigmentary anomalies on sun-exposed areas, tendon contractures that tend to involve the ankles and feet with gait disturbances, and development of pulmonary fibrosis during the second decade of life resulting in progressive dyspnea and restrictive impairment of lung function. Additional features include heat intolerance, reduced sweating, and thin hair (summary by Mercier et al., 2013). (615704)

Genetics Home Reference : 24 Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (abbreviated POIKTMP), is a disorder that affects many parts of the body, particularly the skin, muscles, lungs, and pancreas. Signs and symptoms vary among affected individuals.

GeneReviews: NBK390610

Related Diseases for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

Diseases related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fibrosis of extraocular muscles, congenital, 1 10.5
2 pulmonary fibrosis 10.5
3 myopathy 10.5
4 priapism 9.9
5 ring chromosome y syndrome 9.9

Graphical network of the top 20 diseases related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:



Diseases related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

Symptoms & Phenotypes for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

Symptoms via clinical synopsis from OMIM:

53
Muscle Soft Tissue:
muscle wasting
contractures of distal lower limbs
contractures of upper limbs (in some patients)
muscle weakness of proximal and distal upper and lower limbs
myogenic profile on electromyography
more
Laboratory Abnormalities:
elevated serum creatine kinase

Endocrine Features:
delayed puberty (in some patients)

Growth Height:
growth retardation (in some patients)

Head And Neck Face:
poikiloderma, congenital

Abdomen Pancreas:
fatty infiltration of pancreas (rare)

Skin Nails Hair Skin Histology:
atrophy of epidermis
enlarged and fragmented elastic fibers
elastic globules in papillary dermis
diffuse collagen sclerosis

Skin Nails Hair Hair:
hypotrichosis and/or alopecia, primarily involving scalp hair, eyebrows, and eyelashes

Skeletal Spine:
scoliosis (in some patients)

Respiratory Lung:
interstitial pulmonary fibrosis
restrictive syndrome

Head And Neck Eyes:
cataract (rare)
eyebrows sparse or absent
eyelashes sparse or absent

Head And Neck Head:
scalp hair sparse or absent

Abdomen Liver:
hepatomegaly (rare)

Skin Nails Hair Skin:
congenital poikiloderma on face and exposed skin
telangiectatic lesions
hypohidrosis and/or heat intolerance
eczema-like lesions (in some patients)
erysipelas (in some patients)
more
Skin Nails Hair Nails:
nail dysplasia (rare)


Clinical features from OMIM:

615704

Human phenotypes related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 cataract 31 occasional (7.5%) HP:0000518
3 hepatomegaly 31 HP:0002240
4 delayed puberty 31 occasional (7.5%) HP:0000823
5 elevated serum creatine phosphokinase 31 HP:0003236
6 skeletal muscle atrophy 31 HP:0003202
7 hypohidrosis 31 HP:0000966
8 alopecia 31 HP:0001596
9 nail dysplasia 31 occasional (7.5%) HP:0002164
10 erysipelas 31 occasional (7.5%) HP:0001055
11 poikiloderma 31 HP:0001029

Drugs & Therapeutics for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

Search Clinical Trials , NIH Clinical Center for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

Genetic Tests for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

Genetic tests related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

# Genetic test Affiliating Genes
1 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 28 FAM111B

Anatomical Context for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

MalaCards organs/tissues related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

38
Lung, Skin, Pancreas, Skeletal Muscle

Publications for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

Articles related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

# Title Authors Year
1
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. ( 24268661 )
2013
2
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis ( 27748098 )
1993

Variations for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

UniProtKB/Swiss-Prot genetic disease variations for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

71
# Symbol AA change Variation ID SNP ID
1 FAM111B p.Tyr621Asp VAR_070953 rs587777236
2 FAM111B p.Arg627Gly VAR_070954 rs587777237
3 FAM111B p.Ser628Asn VAR_070955 rs587777238

ClinVar genetic disease variations for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FAM111B NM_198947.3(FAM111B): c.1861T> G (p.Tyr621Asp) single nucleotide variant Pathogenic rs587777236 GRCh38 Chromosome 11, 59125958: 59125958
2 FAM111B NM_198947.3(FAM111B): c.1879A> G (p.Arg627Gly) single nucleotide variant Pathogenic rs587777237 GRCh38 Chromosome 11, 59125976: 59125976
3 FAM111B NM_198947.3(FAM111B): c.1883G> A (p.Ser628Asn) single nucleotide variant Pathogenic rs587777238 GRCh38 Chromosome 11, 59125980: 59125980
4 FAM111B NM_198947.3(FAM111B): c.1261_1263delAAG (p.Lys421del) deletion Pathogenic rs886039851 GRCh37 Chromosome 11, 58892831: 58892833
5 FAM111B NM_198947.3(FAM111B): c.1289A> C (p.Gln430Pro) single nucleotide variant Pathogenic rs551644836 GRCh37 Chromosome 11, 58892859: 58892859
6 FAM111B NM_198947.3(FAM111B): c.1874C> A (p.Thr625Asn) single nucleotide variant Pathogenic rs886039852 GRCh37 Chromosome 11, 58893444: 58893444

Expression for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

Search GEO for disease gene expression data for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis.

Pathways for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

GO Terms for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

Sources for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

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