Muscle weakness, and Growth hormone deficiency

Diseases related with Muscle weakness and Growth hormone deficiency

In the following list you will find some of the most common rare diseases related to Muscle weakness and Growth hormone deficiency that can help you solving undiagnosed cases.

Top matches:

Congenital isolated adrenocorticotropic hormone deficiency is characterized by severe hypoglycemia in the neonatal period, associated with seizures in about half of cases; prolonged cholestatic jaundice; and very low plasma ACTH levels with no significant response to CRH (OMIM ). Plasma cortisol levels are also extremely low (Vallette-Kasic et al., 2005). TBX19 is required for initiation of transcription of the POMC gene (OMIM ), which produces the precursor peptide from which ACTH is derived (Lamolet et al., 2001).

CONGENITAL ISOLATED ACTH DEFICIENCY Is also known as adrenocorticotropic hormone deficiency

Related symptoms:

  • Seizures
  • Muscle weakness
  • Fatigue
  • Vomiting
  • Depressivity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL ISOLATED ACTH DEFICIENCY

MYASTHENIC SYNDROME, CONGENITAL, 22; CMS22 Is also known as prepl deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 22; CMS22

Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Other less relevant matches:

Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger SyndromeLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2 ). A third form of Axenfeld-Rieger syndrome (RIEG3 ) is caused by mutation in the FOXC1 gene (OMIM ) on chromosome 6p25.See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.

AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 Is also known as rieger syndrome, type 1|rgs|rieg

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). Genetic Heterogeneity of Bartter SyndromeAntenatal Bartter syndrome type 1 (OMIM ) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1 ). Antenatal Bartter syndrome type 2 (OMIM ) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1 ). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A (OMIM ), is caused by mutation in the BSND gene (OMIM ). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B (OMIM ), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes.Also see autosomal dominant hypocalcemia-1 with Bartter syndrome (OMIM ), which is sometimes referred to as Bartter syndrome type 5 (Fremont and Chan, 2012), caused by mutation in the CASR gene (OMIM ).See Gitelman syndrome (GTLMN ), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (OMIM ).

BARTTER SYNDROME, TYPE 3; BARTS3 Is also known as bartter syndrome, classic

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 3; BARTS3

Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

BETHLEM MYOPATHY Is also known as ullrich scleroatonic muscular dystrophy|benign autosomal dominant myopathy|ullrich disease|ullrich congenital muscular dystrophy|muscular dystrophy, scleroatonic|ucmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BETHLEM MYOPATHY

Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.

HYPOTONIA-CYSTINURIA SYNDROME Is also known as cystinuria with mitochondrial disease|hcs|homozygous 2p16 deletion syndrome, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTONIA-CYSTINURIA SYNDROME

Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.

LYMPHEDEMA-DISTICHIASIS SYNDROME Is also known as lymphedema with distichiasis

Related symptoms:

  • Muscle weakness
  • Cleft palate
  • Pain
  • Cataract
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-DISTICHIASIS SYNDROME

Low match TMEM165-CDG

TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).

TMEM165-CDG Is also known as congenital disorder of glycosylation type 2k|cdg iik|cdg2k|congenital disorder of glycosylation type iik|cdg-iik|cdgiik|cdg syndrome type iik|carbohydrate deficient glycoprotein syndrome type iik

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about TMEM165-CDG

Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Top 5 symptoms//phenotypes associated to Muscle weakness and Growth hormone deficiency

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscle weakness and Growth hormone deficiency. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Neonatal hypotonia Hypogonadism Ptosis Global developmental delay Seizures Scoliosis Facial palsy Motor delay Feeding difficulties Long eyelashes Generalized muscle weakness Abnormality of the skeletal system Vomiting

Rare Symptoms - Less than 30% cases

Protruding ear Myopathy Kyphoscoliosis Proximal muscle weakness Joint laxity Feeding difficulties in infancy Strabismus Elevated hepatic transaminase Spastic paraplegia Small for gestational age Distal muscle weakness Joint stiffness Osteoporosis Hypothyroidism Hepatosplenomegaly Hypertension Pain Arrhythmia Edema Tachycardia Prominent supraorbital ridges Hepatomegaly Hypocalcemia Severe short stature Gynecomastia Talipes equinovarus High palate Flexion contracture Diabetes mellitus Kyphosis Hearing impairment Muscular dystrophy Rigidity Elevated serum creatine phosphokinase Hypergonadotropic hypogonadism Obesity Hyperkalemia Spinal rigidity Neonatal hypoglycemia Anorexia Mildly elevated creatine phosphokinase Posteriorly rotated ears Abnormality of mitochondrial metabolism Waddling gait Hypotension Increased variability in muscle fiber diameter Tented upper lip vermilion Hypoglycemia Fatigue Abnormal facial shape Frontal bossing Progressive proximal muscle weakness Cystinuria Long philtrum Knee pain Overweight Tubulointerstitial nephritis Corneal erosion Varicose veins Intellectual disability, severe Malar flattening Venous insufficiency Macrocephaly Distichiasis Renal duplication Fibrosarcoma Epicanthus Predominantly lower limb lymphedema Abnormality of the pulmonary vasculature Downslanted palpebral fissures Lipedema Microcephaly Muscular hypotonia Depressed nasal bridge Low-set ears Glomerulopathy Areflexia Fever Spinalarachnoid cyst Central hypotonia Cellulitis Dolichocephaly Severe failure to thrive Cleft palate Polyphagia Nasal speech Severe muscular hypotonia Increased body weight Nephrolithiasis Decreased fetal movement Midface retrusion Lactic acidosis Cataract Abnormality of cardiovascular system morphology Patent ductus arteriosus Arthrogryposis multiplex congenita Intellectual disability, moderate Ectropion Webbed neck Recurrent skin infections Conjunctivitis Lymphedema Acidosis Recurrent urinary tract infections Macrotia Bruising susceptibility Retrognathia Cleft upper lip Paresthesia Abnormality of the liver Proteinuria Anxiety Photophobia Telangiectasia Toenail dysplasia Thrombocytopenia Hyperinsulinemia Lipoatrophy Reduced subcutaneous adipose tissue Prolonged QT interval Cutis marmorata Skeletal muscle hypertrophy Ventricular fibrillation Failure to thrive in infancy Lipodystrophy Pyloric stenosis IgA deficiency Polycystic ovaries Ventricular arrhythmia Reduced bone mineral density Delayed gross motor development Ventricular tachycardia Pancreatitis Atherosclerosis Hyperlipidemia Acanthosis nigricans Secondary amenorrhea Protuberant abdomen Recurrent bacterial infections Polymorphic ventricular tachycardia Muscle mounding Abnormality of skeletal muscle fiber size Cervical spine instability Generalized muscle hypertrophy Prominent umbilicus Abnormality of upper lip Congenital generalized lipodystrophy Atlantoaxial instability Abnormal levels of creatine kinase in blood Supraventricular tachycardia Fasting hyperinsulinemia Loss of subcutaneous adipose tissue in limbs Dysmenorrhea Atlantoaxial dislocation Prolonged QTc interval Generalized lipodystrophy Ileus Exercise-induced myalgia Prominent superficial veins Accelerated skeletal maturation Exercise intolerance Skeletal dysplasia Amelogenesis imperfecta Dysphagia Unexplained fevers Diaphyseal dysplasia Anterior pituitary hypoplasia Increased laxity of fingers Beaking of vertebral bodies Premature skin wrinkling Broad neck Protruding tongue Splenomegaly Metaphyseal dysplasia Epiphyseal dysplasia Sacral dimple Shock Hoarse voice Rhizomelia Postnatal microcephaly Depressed nasal ridge Abnormality of the cerebral white matter Congestive heart failure Dilatation Pointed chin Ventricular hypertrophy Muscle stiffness Bradycardia Sparse and thin eyebrow Insulin resistance Thin skin Palpitations Hypertriglyceridemia Atrial fibrillation Epidermal acanthosis Recurrent infections Sudden cardiac death Hepatic steatosis Hirsutism Postnatal growth retardation Hyperlordosis Myalgia Osteopenia Constipation Delayed skeletal maturation Increased laxity of ankles Scarring Hyperextensibility at wrists Titubation Hydrocephalus Wide nasal bridge Hypertelorism Central heterochromia Long eyebrows Choroideremia Alopecia areata Recurrent hypoglycemia Abnormality of the dentition Progressive gait ataxia Retinal atrophy Chorioretinal atrophy Sensory axonal neuropathy Hypogonadotrophic hypogonadism Horizontal nystagmus Clumsiness Blindness Hernia Hypoplasia of penis Anal atresia Choanal atresia Microdontia Hypoplasia of the maxilla Hypodontia Microcornea Everted lower lip vermilion Confusion Short philtrum Hypospadias Telecanthus Conductive hearing impairment Thin upper lip vermilion Umbilical hernia Mandibular prognathia Glaucoma Inguinal hernia Visual loss Sparse scalp hair Pigmentary retinopathy Reduced number of teeth Adrenal insufficiency Hypoglycemic seizures Fasting hypoglycemia Adrenocorticotropic hormone deficiency Decreased circulating cortisol level Adrenal hypoplasia Primary adrenal insufficiency Prolonged neonatal jaundice Hyponatremia Dysarthria Psychosis Hepatitis Nausea Nausea and vomiting Jaundice Weight loss Depressivity Adrenocorticotropin deficient adrenal insufficiency Narrow forehead Progressive cerebellar ataxia Pallor Thick eyebrow Distal amyotrophy Retinal degeneration Peripheral axonal neuropathy Paraplegia Delayed puberty Sparse hair Gait ataxia Ataxia Micropenis Rod-cone dystrophy Alopecia Cerebellar atrophy Peripheral neuropathy Cognitive impairment Cryptorchidism Nystagmus Hypoplasia of dental enamel Slurred speech Impaired mastication Impaired reabsorption of chloride Hip dislocation Camptodactyly of finger Hyperkeratosis Respiratory failure Hyperhidrosis Respiratory insufficiency Abnormality of prostaglandin metabolism Secondary hyperaldosteronism Pachygyria Abnormal sclera morphology Hyperchloriduria Hyperactive renin-angiotensin system Renal potassium wasting Increased urinary potassium Azotemia Abnormal choroid morphology Round face EMG abnormality Hypokalemic metabolic alkalosis Ankle contracture Nocturnal hypoventilation Muscle fiber necrosis Slender build Type 1 muscle fiber predominance Follicular hyperkeratosis Proximal amyotrophy Recurrent lower respiratory tract infections Difficulty climbing stairs Congenital hip dislocation Generalized amyotrophy Multiple joint contractures Congenital muscular dystrophy Limb-girdle muscular dystrophy Cachexia Respiratory insufficiency due to muscle weakness Torticollis Lissencephaly Hypokalemic alkalosis Hypocalciuria Myotonia Rieger anomaly Arthritis Polyhydramnios Sensorineural hearing impairment Abnormally prominent line of Schwalbe Axenfeld anomaly Bilateral choanal atresia Polycoria Abnormality of the abdominal wall Chest pain Anterior synechiae of the anterior chamber Hypoplasia of the iris Posterior embryotoxon Megalocornea Aniridia Anal stenosis Abnormality of dental morphology Muscle cramps Premature birth Respiratory arrest Hyperphosphatemia Increased circulating renin level Metabolic alkalosis Abnormality of the retinal vasculature Chondrocalcinosis Alkalosis Renal salt wasting Hypomagnesemia Hyperaldosteronism Dehydration Polycythemia Polyuria Rickets Glomerulonephritis Hypercalcemia Hypercalciuria Hypokalemia Nephrocalcinosis Adipose tissue loss


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