Cardiomyopathy, and Hyperhidrosis

Medium match PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE; PPKS1

Striate palmoplantar keratoderma belongs to a group of skin diseases in which there is thickening of the skin on the palms and soles. The striate form is characterized by longitudinal hyperkeratotic lesions extending the length of each finger to the palm, and hyperkeratotic lesions are restricted to regions of the body where pressure and abrasion are greatest (summary by Hunt et al., 2001). Patients with diffuse or focal forms of keratoderma associated with mutation in the DSG1 gene have also been reported (Keren et al., 2005; Milingou et al., 2006). Genetic Heterogeneity of Keratosis Palmoplantaris StriataType II PPKS (PPKS2 ) is caused by mutation in the DSP gene (OMIM ) on chromosome 6.Type III PPKS (PPKS3 ) is caused by mutation in the keratin-1 gene (KRT1 ) on chromosome 12q.For a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (OMIM ).Nitoiu et al. (2014) reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSG1 and DSP genes.

PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE; PPKS1 Is also known as kpps1|keratoderma, palmoplantar, striate form i|sppk1|striate palmoplantar keratoderma i|keratosis palmoplantaris striata i

• Neoplasm
• Cardiomyopathy
• Hyperhidrosis
• Hyperkeratosis
• Nail dystrophy

SOURCES: OMIM MESH MENDELIAN

Medium match HYPOTRICHOSIS 8; HYPT8

Hypotrichosis simplex refers to a group of hereditary isolated alopecias characterized by diffuse and progressive hair loss, usually beginning in early childhood (Pasternack et al., 2008). Localized autosomal recessive hypotrichosis (LAH) is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas (summary by Schaffer et al., 2006).Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends (summary by Petukhova et al., 2009). Several families have been reported in which some affected individuals exhibit features of hypotrichosis and others have woolly scalp hair (Khan et al., 2011).Woolly hair is also a feature of several syndromes, such as Naxos disease (OMIM ) and cardiofaciocutaneous syndrome (OMIM ) (Petukhova et al., 2009), or the palmoplantar keratoderma and cardiomyopathy syndrome (OMIM ) (Carvajal-Huerta, 1998). Genetic Heterogeneity of Hypotrichosis and Woolly HairFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (OMIM ).For a discussion of genetic heterogeneity of localized hypotrichosis, see LAH1 (HYPT6 ).Another form of autosomal recessive woolly hair with or without hypotrichosis (ARWH2 ) is caused by mutation in the LIPH gene (OMIM ) and is allelic to autosomal recessive localized hypotrichosis (LAH2). ARWH3 (OMIM ) is caused by mutation in the KRT25 gene (OMIM ) on chromosome 17q21.An autosomal dominant form of woolly hair with hypotrichosis (HYPT13 ) is caused by mutation in the KRT71 gene (OMIM ) on chromosome 12q13. Another autosomal dominant form of woolly hair (ADWH ) with normal hair density is caused by mutation in the KRT74 gene (OMIM ) on chromosome 12q13, and is allelic to an autosomal dominant form of hypotrichosis simplex of the scalp (HYPT3 ) as well as an ectodermal dysplasia of the hair/nail type (ECTD7 ).

HYPOTRICHOSIS 8; HYPT8 Is also known as lah3|hypotrichosis, localized, autosomal recessive 3

• Cardiomyopathy
• Alopecia
• Hyperhidrosis
• Hyperkeratosis
• Erythema

SOURCES: OMIM MESH MENDELIAN

Medium match CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM

The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM Is also known as cpt2, severe infantile form|cptii, severe infantile form|carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia|carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form|cpt2, hepatocardiomuscular form|cptii, hepatoc

• Seizures
• Hepatomegaly
• Fever
• Respiratory distress
• Cardiomyopathy

SOURCES: OMIM MESH ORPHANET MENDELIAN

Medium match NAXOS DISEASE

Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.

NAXOS DISEASE Is also known as keratosis palmoplantaris with arrhythmogenic cardiomyopathy|palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy|kwwh type i|keratoderma with woolly hair type i|mal de naxos|palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyo

• Fatigue
• Cardiomyopathy
• Congestive heart failure
• Dilatation
• Arrhythmia

SOURCES: MESH ORPHANET OMIM MENDELIAN

Medium match CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3

Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures (Schulz et al., 2008).

• Seizures
• Global developmental delay
• Generalized hypotonia
• Scoliosis
• Growth delay

SOURCES: OMIM MENDELIAN

Medium match FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA

Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.

FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA Is also known as lactic acidosis, fatal infantile, formerly

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Hearing impairment

SOURCES: OMIM MESH ORPHANET MENDELIAN

Medium match CYCLIC VOMITING SYNDROME; CVS

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Hearing impairment

SOURCES: OMIM MENDELIAN

Medium match TAKAYASU ARTERITIS

Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

• Seizures
• Muscle weakness
• Anemia
• Hypertension
• Fever

SOURCES: ORPHANET OMIM MENDELIAN

Medium match MCLEOD NEUROACANTHOCYTOSIS SYNDROME

McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

• Seizures
• Short stature
• Muscle weakness
• Cognitive impairment
• Anemia

SOURCES: ORPHANET OMIM MENDELIAN

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

• Intellectual disability
• Cognitive impairment
• Hypertension
• Peripheral neuropathy
• Hepatomegaly

SOURCES: OMIM MENDELIAN